Publications:

Novel KCNQ4 variants in different functional domains confer genotype- and mechanism-based therapeutics in patients with nonsyndromic hearing loss.

Experimental & Molecular Medicine

Lee, Sang-Yeon SY; Choi, Hyun Been HB; Park, Mina M; Choi, Il Soon IS; An, Jieun J; Kim, Ami A; Kim, Eunku E; Kim, Nahyun N; Han, Jin Hee JH; Kim, Min Young MY; Lee, Seung Min SM; Oh, Doo-Yi DY; Kim, Bong Jik BJ; Yi, Nayoung N; Kim, Nayoung K D NKD; Lee, Chung C; Park, Woong-Yang WY; Koh, Young Ik YI; Gee, Heon Yung HY; Cho, Hyun Sung HS; Kang, Tong Mook TM; Choi, Byung Yoon BY

Publication Date: 2021-07

Variant appearance in text: KCNQ1: G348W

PubMed Link: 34316018

Variant Present in the following documents:

• Main text
• 12276_2021_Article_653.pdf

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Role of the S6 C-terminus in KCNQ1 channel gating.

The Journal Of Physiology

Boulet, Inge R IR; Labro, Alain J AJ; Raes, Adam L AL; Snyders, Dirk J DJ

Publication Date: 2007-12-01

Variant appearance in text: KCNQ1: G348W

PubMed Link: 17932138

Variant Present in the following documents:

• Main text

View BVdb publication page